What question did this study set out to answer?

To describe the clinical manifestations and implications of RASGRP1 deficiency in a pediatric patient.

May 31, 2026eJHaem0 citationsOpen Access

RASGRP1 Deficiency Manifesting as Severe Vasculopathy and Fatal Autoimmune Hemolytic Anemia

KAKosar Asna Ashari BYBahareh Yaghmaie NPNeda Pak

Key Points

To describe the clinical manifestations and implications of RASGRP1 deficiency in a pediatric patient.
Detailed case report of a 5-year-old male with homozygous RASGRP1 mutations.
Review of 14 previously reported cases to assess phenotypic outcomes and management.
Assessment of treatment options and outcomes for RASGRP1 deficiency.
Patient experienced severe vasculopathy, including ischemic stroke and thrombosis.
Fatal refractory autoimmune hemolytic anemia was documented; conservative management led to high mortality.
Vascular autoimmunity is identified as a serious, emerging phenotype in RASGRP1 deficiency cases.

Abstract

ABSTRACT Background RASGRP1 deficiency is a rare inborn error of immunity characterized by immunodeficiency, autoimmunity, and lymphoproliferation. Results We report a 5‐year‐old male with novel homozygous splice‐donor mutations in RASGRP1 (c.1720+1G>A and c.1720+2T>C) who presented with severe vasculopathy (ischemic stroke and thrombosis), secondary antiphospholipid syndrome, and fatal refractory autoimmune hemolytic anemia. Conclusion A review of 14 previously reported cases (plus current case) confirms that while infections (100%) and lymphoproliferation (87%) are common, vascular autoimmunity is an emerging life‐threatening phenotype. Hematopoietic stem cell transplantation remains the only curative therapy, as conservative management carries high mortality. Early genetic diagnosis is essential for optimal management. Trial Registration : The authors have confirmed clinical trial registration is not needed for this submission

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